Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221358
Disease: Long narrow head
Long narrow head
0.110 Biomarker disease HPO
CUI: C0221358
Disease: Long narrow head
Long narrow head
0.110 GeneticVariation disease BEFREE Sixteen features (neonatal hypotonia, neonatal hyporeflexia, neonatal feeding problems, speech/language delay, delayed age at crawling, delayed age at walking, severity of developmental delay, male genital anomalies, dysplastic toenails, large or fleshy hands, macrocephaly, tall stature, facial asymmetry, full brow, atypical reflexes and dolichocephaly) were found to be significantly associated with larger deletion sizes, suggesting the role of additional genes or regulatory regions proximal to SHANK3. 21984749 2011